PTS, 6-pyruvoyltetrahydropterin synthase, 5805

N. diseases: 89; N. variants: 40
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1829648
Disease: Amino acidemias
Amino acidemias 		group Disease or Syndrome 1 0.010 None 1.000 1 1992 1992
CUI: C4017280
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY 		disease Finding 1 3 0.100 None 0 3
CUI: C1863052
Disease: ALZHEIMER DISEASE, FAMILIAL, 1
ALZHEIMER DISEASE, FAMILIAL, 1 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 4 0.010 None 1.000 1 2002 2002
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 38 0.900 definitive 1.000 41 37 1987 2017
CUI: C0342686
Disease: Aromatic amino acid decarboxylase deficiency
Aromatic amino acid decarboxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 7 0.010 None 1.000 1 2017 2017
CUI: C0238472
Disease: TOXOPLASMOSIS, CHRONIC
TOXOPLASMOSIS, CHRONIC 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C0268464
Disease: Transient hyperphenylalaninemia
Transient hyperphenylalaninemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 1 1997 1997
CUI: C0268465
Disease: Phenylketonuria II
Phenylketonuria II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 16 0.010 None 1.000 1 2017 2017
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		disease Disease or Syndrome 7 16 0.010 None 1.000 1 2017 2017
CUI: C0751436
Disease: Hyperphenylalaninemia, Non-Phenylketonuric
Hyperphenylalaninemia, Non-Phenylketonuric 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 9 2 0.050 None 1.000 5 2 1996 2015
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 9 3 0.100 None 0
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 10 9 0.010 None 1.000 1 2017 2017
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.010 None 1.000 1 1997 1997
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 11 0.010 None 1.000 1 2015 2015
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		phenotype Laboratory Procedure 16 25 0.100 None 1.000 1 1 2017 2017
CUI: C0302362
Disease: Brucella melitensis infection
Brucella melitensis infection 		disease Infections Disease or Syndrome 17 0.010 None 1.000 1 2010 2010
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 38 0.160 None 1.000 6 6 1992 2019
CUI: C0013144
Disease: Drowsiness
Drowsiness 		phenotype Mental Disorders Finding 31 3 0.100 None 0
CUI: C0037036
Disease: Sialorrhea
Sialorrhea 		disease Stomatognathic Diseases Disease or Syndrome 32 1 0.100 None 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 32 2 0.100 None 0
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		phenotype Mental Disorders Finding 33 5 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		phenotype Disease or Syndrome 39 0.100 None 0
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.020 None 1.000 2 1992 2002
CUI: C0007684
Disease: Central Nervous System Infection
Central Nervous System Infection 		group Infections; Nervous System Diseases Disease or Syndrome 44 5 0.010 None 1.000 1 2016 2016